Help Fund SYNGAP1 Syndrome Research

SYNGAP1 UK is a charitable organisation set up and run by parents of children who have been diagnosed with rare genetic condition, SYNGAP1 Syndrome.

Family and friends of people with SYNGAP1 Syndrome have decided to do the Anfield Abseil to raise money and awareness of this rare condition. Over 50 people have volunteered to abseil down the 100ft height of the Main Stand of Anfield Stadium in Liverpool. This will be happening on the afternoon of Sunday the 28th April and if you could help us by donating and/or sharing this fundraiser we would be so grateful.

SYNGAP1 Syndrome is a rare genetic condition with only approximately 1000 patients diagnosed in the world, of which about 100 are in the UK. However, scientists believe there may be as many as 8 million people with the condition worldwide. It is also thought to be one of the biggest genetic causes of autism and learning disability. SYNGAP1 Syndrome was only discovered relatively recently, in 2009. Due to this, very little is known about the condition, and there are currently no specific treatments and certainly no cure.

SYNGAP1 is a gene that we all have which makes a protein called SynGAP in our brains. The SynGAP protein is vital for brain development and functioning. Everybody has two copies of the gene, but unfortunately for our children one copy doesn't work properly causing less SynGAP protein to be produced. This results in SYNGAP1 syndrome. People with SYNGAP1 syndrome all have some form of learning difficulties, which range from mild to profound, around half will also have autism and at least 80% have epilepsy amongst other symptoms.

The main symptoms are:

Intellectual disability

Epilepsy

Global developmental delays

Severe communication delays/non verbal

Autism

Sensory Processing Disorder

Challenging Behaviour

Sleep disorder

ADHD

Despite being a genetic condition SYNGAP1 Syndrome is not an inherited condition. It is a ‘de novo’ mutation that occurs around conception. It is essentially a ‘bad luck’ mutation and could happen to anyone, without any history of disability in the family.

SYNGAP1 UK raise money for research into this debilitating condition and to help support families living with it. All money raised by this abseil will go to the Patrick Wild Center, which is part of the University of Edinburgh, to help directly fund the vital research they are carrying out on SYNGAP1 Syndrome.